Treatment Congenital dyserythropoietic anemia

deferasirox

treatment of individuals cda consist of frequent blood transfusions, can vary depending on type individual has. patients report going every 2–3 weeks blood transfusions. in addition, must undertake chelation therapy survive; either deferoxamine, deferasirox, or deferiprone eliminate excess iron accumulates. removal of spleen , gallbladder common. hemoglobin levels can run anywhere between 8.0 g/dl , 11.0 g/dl in untransfused patients, amount of blood received patient not important baseline pre-transfusion hemoglobin level. true ferritin levels , iron levels in organs well, important patients go regularly transfusions in order maximize health, normal ferritin levels run anywhere between 24 , 336 ng/ml, hematologists not begin chelation therapy until ferritin levels reach @ least 1000 ng/ml. more important check iron levels in organs through mri scans, however, regular blood tests check ferritin levels, show trend, , not reflect actual organ iron content.

gene therapy

gene therapy, as, bone marrow transplant possible treatments disorder, each have own risks @ point in time. bone marrow transplantation more used method between two, whereas researchers still trying definitively establish results of gene therapy treatment. requires 10/10 hla matched donor, however, sibling. patients not have this, must rely on gene therapy research potentially provide them alternative. cda @ both clinical , genetic aspects part of heterogeneous group of genetic conditions. gene therapy still experimental , has largely been tested in animal models until now. type of therapy has promise, however, allows autologous transplantation of patient s own healthy stem cells rather requiring outside donor, thereby bypassing potential graft vs. host disease (gvhd).

in united states, fda approved clinical trials on beta thalassemia patients in 2012. first study, took place in july 2012, recruited human subjects thalassemia major, , ended in 2014.